Incidental Mutation 'R0561:Adck1'
ID |
45890 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adck1
|
Ensembl Gene |
ENSMUSG00000021044 |
Gene Name |
aarF domain containing kinase 1 |
Synonyms |
2610005A10Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0561 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
88327324-88428494 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 88335204 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 30
(D30G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152821
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101165]
[ENSMUST00000166940]
[ENSMUST00000222695]
|
AlphaFold |
Q9D0L4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101165
AA Change: D30G
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000098724 Gene: ENSMUSG00000021044 AA Change: D30G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
Pfam:ABC1
|
136 |
252 |
1.7e-42 |
PFAM |
Pfam:Pkinase
|
150 |
348 |
1.3e-5 |
PFAM |
low complexity region
|
498 |
508 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166940
AA Change: D30G
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000127254 Gene: ENSMUSG00000021044 AA Change: D30G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
Pfam:ABC1
|
136 |
252 |
2.2e-42 |
PFAM |
Pfam:Pkinase
|
150 |
357 |
6.2e-6 |
PFAM |
low complexity region
|
498 |
508 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221603
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221630
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222695
AA Change: D30G
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(1) : Gene trapped(1) |
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apc |
A |
T |
18: 34,446,356 (GRCm39) |
H1050L |
possibly damaging |
Het |
Armc2 |
A |
G |
10: 41,869,188 (GRCm39) |
V166A |
probably benign |
Het |
Atp6v1b1 |
A |
T |
6: 83,730,793 (GRCm39) |
I173F |
probably damaging |
Het |
Bpifb4 |
A |
G |
2: 153,786,742 (GRCm39) |
D298G |
probably damaging |
Het |
C4b |
T |
A |
17: 34,953,391 (GRCm39) |
S1031C |
probably damaging |
Het |
Calcr |
A |
G |
6: 3,692,630 (GRCm39) |
I408T |
probably damaging |
Het |
Catsperg1 |
T |
C |
7: 28,881,737 (GRCm39) |
N1009S |
probably damaging |
Het |
Ces2a |
T |
C |
8: 105,464,165 (GRCm39) |
S266P |
probably benign |
Het |
Chrna1 |
A |
G |
2: 73,396,596 (GRCm39) |
V433A |
possibly damaging |
Het |
Ctnnb1 |
G |
A |
9: 120,780,788 (GRCm39) |
V291M |
probably damaging |
Het |
Dcbld1 |
T |
C |
10: 52,138,032 (GRCm39) |
Y99H |
probably benign |
Het |
Ddx60 |
A |
T |
8: 62,470,828 (GRCm39) |
H1440L |
possibly damaging |
Het |
Dsg1c |
A |
T |
18: 20,407,832 (GRCm39) |
I393L |
probably benign |
Het |
Eif5 |
G |
T |
12: 111,506,950 (GRCm39) |
R128L |
probably benign |
Het |
Ercc3 |
A |
G |
18: 32,378,592 (GRCm39) |
D191G |
possibly damaging |
Het |
Gp1ba |
A |
T |
11: 70,530,416 (GRCm39) |
|
probably benign |
Het |
Krt24 |
C |
T |
11: 99,175,439 (GRCm39) |
E199K |
probably damaging |
Het |
Lrif1 |
G |
T |
3: 106,639,481 (GRCm39) |
A164S |
probably damaging |
Het |
Map2 |
A |
G |
1: 66,464,656 (GRCm39) |
D1682G |
probably damaging |
Het |
Megf8 |
C |
T |
7: 25,028,257 (GRCm39) |
P274S |
probably benign |
Het |
Mslnl |
C |
T |
17: 25,962,177 (GRCm39) |
Q192* |
probably null |
Het |
Nfkb2 |
T |
C |
19: 46,298,301 (GRCm39) |
V535A |
possibly damaging |
Het |
Or10q1 |
A |
T |
19: 13,726,662 (GRCm39) |
Y64F |
probably damaging |
Het |
Or4a66 |
A |
G |
2: 88,530,914 (GRCm39) |
I253T |
possibly damaging |
Het |
Or4c11 |
T |
A |
2: 88,695,024 (GRCm39) |
V25E |
possibly damaging |
Het |
Or7a37 |
T |
A |
10: 78,805,729 (GRCm39) |
L82* |
probably null |
Het |
Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
Or8g22 |
C |
T |
9: 38,958,669 (GRCm39) |
M15I |
probably damaging |
Het |
Pag1 |
T |
A |
3: 9,764,481 (GRCm39) |
Y224F |
probably damaging |
Het |
Pbrm1 |
A |
C |
14: 30,757,948 (GRCm39) |
I193L |
probably benign |
Het |
Phrf1 |
T |
C |
7: 140,834,876 (GRCm39) |
V17A |
probably benign |
Het |
Plekhg2 |
T |
G |
7: 28,069,908 (GRCm39) |
T42P |
probably benign |
Het |
Pmp22 |
T |
A |
11: 63,025,250 (GRCm39) |
W28R |
probably damaging |
Het |
Ppp1r13b |
A |
T |
12: 111,832,880 (GRCm39) |
H82Q |
probably damaging |
Het |
Rgs8 |
T |
C |
1: 153,541,668 (GRCm39) |
|
probably null |
Het |
Rtl1 |
A |
G |
12: 109,560,363 (GRCm39) |
V492A |
probably damaging |
Het |
Slc22a27 |
A |
G |
19: 7,857,527 (GRCm39) |
|
probably null |
Het |
Slx4ip |
A |
G |
2: 136,908,090 (GRCm39) |
E79G |
probably null |
Het |
Syde1 |
C |
T |
10: 78,425,210 (GRCm39) |
R267H |
probably damaging |
Het |
Tas2r114 |
A |
G |
6: 131,666,758 (GRCm39) |
I90T |
probably benign |
Het |
Tjp3 |
C |
T |
10: 81,109,674 (GRCm39) |
G843D |
probably benign |
Het |
Tln1 |
A |
T |
4: 43,550,304 (GRCm39) |
M453K |
possibly damaging |
Het |
Ttc39a |
A |
T |
4: 109,297,799 (GRCm39) |
Y408F |
probably damaging |
Het |
Usp39 |
T |
G |
6: 72,313,368 (GRCm39) |
Q274P |
probably damaging |
Het |
Uvrag |
C |
T |
7: 98,537,768 (GRCm39) |
V476I |
probably damaging |
Het |
Vcan |
T |
A |
13: 89,860,372 (GRCm39) |
T332S |
probably damaging |
Het |
Vcan |
T |
A |
13: 89,879,583 (GRCm39) |
H22L |
possibly damaging |
Het |
Wls |
A |
G |
3: 159,578,705 (GRCm39) |
D89G |
probably benign |
Het |
Zfhx2 |
A |
T |
14: 55,303,346 (GRCm39) |
V1546E |
probably benign |
Het |
Zfp457 |
T |
A |
13: 67,442,134 (GRCm39) |
H147L |
probably damaging |
Het |
|
Other mutations in Adck1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00501:Adck1
|
APN |
12 |
88,335,192 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00822:Adck1
|
APN |
12 |
88,422,286 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01370:Adck1
|
APN |
12 |
88,423,503 (GRCm39) |
splice site |
probably benign |
|
IGL01480:Adck1
|
APN |
12 |
88,423,635 (GRCm39) |
nonsense |
probably null |
|
IGL01994:Adck1
|
APN |
12 |
88,397,926 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL02089:Adck1
|
APN |
12 |
88,413,480 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03058:Adck1
|
APN |
12 |
88,425,900 (GRCm39) |
missense |
probably benign |
|
IGL03196:Adck1
|
APN |
12 |
88,397,885 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03307:Adck1
|
APN |
12 |
88,425,823 (GRCm39) |
missense |
possibly damaging |
0.94 |
full-figured
|
UTSW |
12 |
88,407,887 (GRCm39) |
missense |
possibly damaging |
0.63 |
0152:Adck1
|
UTSW |
12 |
88,397,921 (GRCm39) |
missense |
probably benign |
0.03 |
R0107:Adck1
|
UTSW |
12 |
88,413,426 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0164:Adck1
|
UTSW |
12 |
88,422,280 (GRCm39) |
missense |
probably damaging |
0.99 |
R0164:Adck1
|
UTSW |
12 |
88,422,280 (GRCm39) |
missense |
probably damaging |
0.99 |
R0179:Adck1
|
UTSW |
12 |
88,425,942 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0505:Adck1
|
UTSW |
12 |
88,338,461 (GRCm39) |
splice site |
probably benign |
|
R0831:Adck1
|
UTSW |
12 |
88,335,118 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R1005:Adck1
|
UTSW |
12 |
88,368,872 (GRCm39) |
missense |
probably damaging |
0.98 |
R1524:Adck1
|
UTSW |
12 |
88,368,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R2016:Adck1
|
UTSW |
12 |
88,427,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R4438:Adck1
|
UTSW |
12 |
88,397,920 (GRCm39) |
nonsense |
probably null |
|
R4745:Adck1
|
UTSW |
12 |
88,368,949 (GRCm39) |
splice site |
probably null |
|
R4827:Adck1
|
UTSW |
12 |
88,413,489 (GRCm39) |
missense |
probably benign |
0.06 |
R4859:Adck1
|
UTSW |
12 |
88,407,865 (GRCm39) |
missense |
probably benign |
0.02 |
R4885:Adck1
|
UTSW |
12 |
88,407,865 (GRCm39) |
missense |
probably benign |
0.02 |
R4921:Adck1
|
UTSW |
12 |
88,407,908 (GRCm39) |
missense |
probably benign |
0.10 |
R5383:Adck1
|
UTSW |
12 |
88,422,373 (GRCm39) |
missense |
probably benign |
0.04 |
R5958:Adck1
|
UTSW |
12 |
88,425,822 (GRCm39) |
missense |
probably benign |
0.33 |
R6028:Adck1
|
UTSW |
12 |
88,368,902 (GRCm39) |
missense |
probably benign |
|
R6199:Adck1
|
UTSW |
12 |
88,407,887 (GRCm39) |
missense |
possibly damaging |
0.63 |
R6317:Adck1
|
UTSW |
12 |
88,368,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R6616:Adck1
|
UTSW |
12 |
88,427,958 (GRCm39) |
missense |
unknown |
|
R6715:Adck1
|
UTSW |
12 |
88,425,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R6915:Adck1
|
UTSW |
12 |
88,422,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R7295:Adck1
|
UTSW |
12 |
88,397,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R7387:Adck1
|
UTSW |
12 |
88,427,822 (GRCm39) |
missense |
probably benign |
|
R7520:Adck1
|
UTSW |
12 |
88,425,975 (GRCm39) |
critical splice donor site |
probably null |
|
R7562:Adck1
|
UTSW |
12 |
88,335,203 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7745:Adck1
|
UTSW |
12 |
88,423,570 (GRCm39) |
missense |
probably benign |
|
R7759:Adck1
|
UTSW |
12 |
88,368,887 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8092:Adck1
|
UTSW |
12 |
88,427,831 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8336:Adck1
|
UTSW |
12 |
88,335,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R9145:Adck1
|
UTSW |
12 |
88,335,193 (GRCm39) |
missense |
probably benign |
0.00 |
R9443:Adck1
|
UTSW |
12 |
88,338,550 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCACCCTTTCCTATCTAAAGGCACC -3'
(R):5'- AGAGCTGACATGCCTGCATTTCG -3'
Sequencing Primer
(F):5'- tctctttgcttctctgccac -3'
(R):5'- TCGATATATGTGAGCACGCC -3'
|
Posted On |
2013-06-11 |